Genomes and Genes
Gene Symbol: Krit1
Description: KRIT1, ankyrin repeat containing
Alias: RGD1305929, krev interaction trapped protein 1
- Guazzi P, Goitre L, Ferro E, Cutano V, Martino C, Trabalzini L, et al. Identification of the Kelch family protein Nd1-L as a novel molecular interactor of KRIT1. PLoS ONE. 2012;7:e44705 pubmed publisherLoss-of-function mutations of the KRIT1 gene (CCM1) have been associated with the Cerebral Cavernous Malformation (CCM) disease, which is characterized by serious alterations of brain capillary architecture...
- Calderwood D, Campbell I, Critchley D. Talins and kindlins: partners in integrin-mediated adhesion. Nat Rev Mol Cell Biol. 2013;14:503-17 pubmed publisher..How kindlins act is less well-defined, but disease-causing mutations show that kindlins are also essential for integrin activation, adhesion, cell spreading and signalling. ..
- Labauge P, Krivosic V, Denier C, Tournier Lasserve E, Gaudric A. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. Arch Ophthalmol. 2006;124:885-6 pubmed..To define the frequency of retinal lesions in a large panel of patients with familial cerebral cavernomas and to screen the cerebral cavernous malformation genes in patients with cerebral and retinal lesions...
- Lampugnani M, Orsenigo F, Rudini N, Maddaluno L, Boulday G, Chapon F, et al. CCM1 regulates vascular-lumen organization by inducing endothelial polarity. J Cell Sci. 2010;123:1073-80 pubmed publisher..We propose that VEC, CCM1 and Rap1 form a signaling complex. In the absence of any of these proteins, AJs are dismantled, cell polarity is lost and vascular lumenal structure is severely altered. ..